Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112785383G>C , CM000664.2:g.112785383G>C | GRCh38 |
| NC_000002.11:g.113542960G>C , CM000664.1:g.113542960G>C | GRCh37 |
| NC_000002.10:g.113259431G>C | NCBI36 |
| NG_008850.1:g.5012C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000575.3:c.-949C>G | NP_000566.3:n.-949C>G |
| NM_000575.4:c.-949C>G | NP_000566.3:n.-949C>G |